Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000224176 | SCV000241391 | benign | not provided | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224176 | SCV000281594 | likely benign | not provided | 2015-12-23 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001080049 | SCV000645065 | benign | Koolen-de Vries syndrome | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001080049 | SCV002807140 | likely benign | Koolen-de Vries syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224176 | SCV004140750 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | KANSL1: BP4 |
Laboratory of Diagnostic Genome Analysis, |
RCV000224176 | SCV001799305 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000224176 | SCV001963382 | likely benign | not provided | no assertion criteria provided | clinical testing |